NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)
|
rs764618040
|
0.00002
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
NM_006623.4(PHGDH):c.357-1G>A
|
rs766427173
|
0.00001
|
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu)
|
rs775936961
|
0.00001
|
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)
|
rs199998249
|
0.00001
|
NC_000001.10:g.(?_120254418)_(120254784_120263792)del
|
|
|
NC_000009.11:g.(?_80919631)_(80923519_?)del
|
|
|
NM_006623.4(PHGDH):c.1078+1G>A
|
rs1224279673
|
|
NM_006623.4(PHGDH):c.1079-2A>G
|
rs2101220673
|
|
NM_006623.4(PHGDH):c.138+1G>T
|
|
|
NM_006623.4(PHGDH):c.139-2A>G
|
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer)
|
rs2101225889
|
|
NM_006623.4(PHGDH):c.290+2T>C
|
rs886041874
|
|
NM_006623.4(PHGDH):c.291-1G>A
|
rs2101160151
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
NM_006623.4(PHGDH):c.356+2T>G
|
rs1651264976
|
|
NM_006623.4(PHGDH):c.411+2T>C
|
rs1302054606
|
|
NM_006623.4(PHGDH):c.412-1G>A
|
|
|
NM_006623.4(PHGDH):c.412-1G>C
|
rs1651455730
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
NM_006623.4(PHGDH):c.511-2A>G
|
rs2101195348
|
|
NM_006623.4(PHGDH):c.643+1G>A
|
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
NM_006623.4(PHGDH):c.901del (p.Val301fs)
|
rs1571013274
|
|
NM_006623.4(PHGDH):c.945+1G>A
|
rs758517215
|
|
NM_006623.4(PHGDH):c.945+1G>T
|
rs758517215
|
|
NM_006623.4(PHGDH):c.946-2A>G
|
rs1217925678
|
|
NM_058179.4(PSAT1):c.122-1G>C
|
rs772958302
|
|
NM_058179.4(PSAT1):c.43_60+9del
|
|
|
NM_058179.4(PSAT1):c.570+2_570+15del
|
rs2118643983
|
|
NM_058179.4(PSAT1):c.571-1G>A
|
rs1828216198
|
|
NM_058179.4(PSAT1):c.740G>C (p.Ser247Thr)
|
|
|